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Cellosaurus GM10684 (CVCL_W564)

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Cell line name GM10684
Synonyms GM10684B
Accession CVCL_W564
Resource Identification Initiative To cite this cell line use: GM10684 (RRID:CVCL_W564)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (Coriell=GM10684).
Disease Werdnig-Hoffmann disease (NCIt: C98670)
Proximal spinal muscular atrophy type 1 (ORDO: Orphanet_83330)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_A9T6 (CS84iSMA-n12B)CVCL_SA29 (ND50083)
Sex of cell Female
Age at sampling 6M
Category Transformed cell line
STR profile Source(s): PubMed=28284873

Markers:
AmelogeninX
CSF1PO10,13
D5S8187
D7S8209,12
D13S3178,11
D16S53911,12
TH0111,13
TPOX8
vWA17,18

Run an STR similarity search on this cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=28284873; DOI=10.1016/j.nmd.2017.02.002; PMCID=PMC5403612
Deborah L. Stabley, Jennifer Holbrook, Ashlee W. Harris, Kathryn J. Swoboda, Thomas Owen Crawford, Katia Sol-Church, Matthew E.R. Butchbach;
Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.
Neuromuscul. Disord. 27:439-446(2017)

Cross-references
Cell line collections (Providers) Coriell; GM10684
Cell line databases/resources CLO; CLO_0024611
CLO; CLO_0037445
LINCS_LDP; LPC-1046
Biological sample resources BioSample; SAMN00800154
Encyclopedic resources Wikidata; Q54844590
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number17